| - GRCh37:
- Chr3:113503158
- GRCh38:
- Chr3:113784311
| ATP6V1A | D100V | Epileptic encephalopathy, infantile or early childhood, 3, Autosomal recessive cutis laxa type 2D | Likely pathogenic
(Nov 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:113524271
- GRCh38:
- Chr3:113805424
| ATP6V1A | A554T | Epileptic encephalopathy, infantile or early childhood, 3 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:113503664
- GRCh38:
- Chr3:113784817
| ATP6V1A | G183A | Epileptic encephalopathy, infantile or early childhood, 3 | Uncertain significance
(Jul 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:113517093
- GRCh38:
- Chr3:113798246
| ATP6V1A | F432I | Epileptic encephalopathy, infantile or early childhood, 3 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:113497631
- GRCh38:
- Chr3:113778784
| ATP6V1A | D11Y | Epileptic encephalopathy, infantile or early childhood, 3 | Uncertain significance
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:113513798
- GRCh38:
- Chr3:113794951
| ATP6V1A | E356D | Epileptic encephalopathy, infantile or early childhood, 3 | Pathogenic
(Nov 4, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:113513818
- GRCh38:
- Chr3:113794971
| ATP6V1A | G363V | Epileptic encephalopathy, infantile or early childhood, 3 | Pathogenic
(Nov 3, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:113503107
- GRCh38:
- Chr3:113784260
| ATP6V1A | G83D | Epileptic encephalopathy, infantile or early childhood, 3 | Uncertain significance
(Jun 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:113517136
- GRCh38:
- Chr3:113798289
| ATP6V1A | P446L | Epileptic encephalopathy, infantile or early childhood, 3, not provided | Uncertain significance
(Jan 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:113517075-113517076
- GRCh38:
- Chr3:113798228-113798229
| ATP6V1A | | Epileptic encephalopathy, infantile or early childhood, 3, Autosomal recessive cutis laxa type 2D, not provided
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:113508654
- GRCh38:
- Chr3:113789807
| ATP6V1A | P319S | not provided, Epileptic encephalopathy, infantile or early childhood, 3 | Pathogenic
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:113513761
- GRCh38:
- Chr3:113794914
| ATP6V1A | V344A | Epileptic encephalopathy, infantile or early childhood, 3 | Uncertain significance
(Nov 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:113505110
- GRCh38:
- Chr3:113786263
| ATP6V1A | V199A | ATP6V1A-related condition, Epileptic encephalopathy, infantile or early childhood, 3 | Uncertain significance
(Aug 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:113507633
- GRCh38:
- Chr3:113788786
| ATP6V1A | S264P | Epileptic encephalopathy, infantile or early childhood, 3, Encephalopathy | Likely pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:113524260
- GRCh38:
- Chr3:113805413
| ATP6V1A | M550T | Epileptic encephalopathy, infantile or early childhood, 3 | Likely pathogenic
(Nov 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:113522467
- GRCh38:
- Chr3:113803620
| ATP6V1A | V511A | Epileptic encephalopathy, infantile or early childhood, 3 | Uncertain significance
(Oct 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:113513773
- GRCh38:
- Chr3:113794926
| ATP6V1A | A348G | Epileptic encephalopathy, infantile or early childhood, 3 | Likely benign
(Sep 22, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr3:113503229
- GRCh38:
- Chr3:113784382
| ATP6V1A | V124M | Epileptic encephalopathy, infantile or early childhood, 3 | Likely benign
(Sep 22, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr3:113508666
- GRCh38:
- Chr3:113789819
| ATP6V1A | R323G | Inborn genetic diseases, Epileptic encephalopathy, infantile or early childhood, 3 | Pathogenic/Likely pathogenic
(Aug 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:113513948
- GRCh38:
- Chr3:113795101
| ATP6V1A | P375T | Epileptic encephalopathy, infantile or early childhood, 3 | Likely pathogenic
(Apr 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:113513937
- GRCh38:
- Chr3:113795090
| ATP6V1A | D371G | Epileptic encephalopathy, infantile or early childhood, 3 | Pathogenic
(Nov 3, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:113497680
- GRCh38:
- Chr3:113778833
| ATP6V1A | P27R | Inborn genetic diseases, not provided | Pathogenic/Likely pathogenic
(Mar 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:113513775
- GRCh38:
- Chr3:113794928
| ATP6V1A | D349N | Epileptic encephalopathy, infantile or early childhood, 3 | Pathogenic
(Mar 15, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr3:113503157
- GRCh38:
- Chr3:113784310
| ATP6V1A | D100Y | Epileptic encephalopathy, infantile or early childhood, 3 | Pathogenic
(Mar 15, 2021) | no assertion criteria provided |